A5084280162- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Augmented Reality Applications
- Neurological diseases and metabolism
- Neurological Disease Mechanisms and Treatments
- Parkinson's Disease Mechanisms and Treatments
- interferon and immune responses
- Advanced Computing and Algorithms
- Retinal Development and Disorders
- Hereditary Neurological Disorders
- Cardiovascular Health and Disease Prevention
- Advanced Nanomaterials in Catalysis
- Neurological and metabolic disorders
- Endoplasmic Reticulum Stress and Disease
Niigata University
2023-2025
Kumamoto University
2017
Abstract Age-related microangiopathy, also known as small vessel disease (SVD), causes damage to the brain, retina, liver, and kidney. Based on DNA theory of aging, we reasoned that genomic instability may underlie an SVD caused by dominant C-terminal variants in TREX1, most abundant 3′−5′ exonuclease mammals. TREX1 cause adult-onset retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S). In RVCL, aberrant, C-terminally truncated mislocalizes nucleus due deletion its...
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC. NIID clinically characterized broad spectrum clinical presentations. To date, relationship between expanded repeat lengths and phenotype patients with remains unclear. Thus, we aimed to clarify genetic their association NIID. For this purpose, genetically analyzed Japanese adult-onset characteristic neuroimaging findings....
Abstract Patients with neuronal intranuclear inclusion disease (NIID) can present encephalitis‐like symptoms such as recurrent paroxysmal fever and unconsciousness. To date, no specific triggers for these have been reported. In our case, an 78‐year‐old woman became unconscious developed after cerebral angiography. The patient had experienced four episodes of unconsciousness in the past 7 years. Postangiography, she immediately fever. No vascular abnormalities were found magnetic resonance...